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GeneBe API Showcase
This page demonstrates how to use the GeneBe API to query variant information. The API provides programmatic access to genomic annotations and variant data.
API presented here should be used for checking single variants. If you want to check many variants at once, please use other API endpoints that you will find in the documentation.
Documentation & Advanced Usage
• Complete API documentation:docs.genebe.net/docs/api/overview/
• Interactive endpoint tester:api.genebe.net/cloud/gb-api-doc/swagger-ui/
• Python client for pandas:pypi.org/project/genebe/
• Java CLI for VCF files:github.com/pstawinski/genebe-cli
• All tools documented at:docs.genebe.net
API Request Examples for Variant: 11-68812478-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=68812478&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 68812478,
"ref": "C",
"alt": "T",
"effect": "synonymous_variant",
"transcript": "ENST00000265641.10",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPT1A",
"gene_hgnc_id": 2328,
"hgvs_c": "c.240G>A",
"hgvs_p": "p.Ser80Ser",
"transcript": "NM_001876.4",
"protein_id": "NP_001867.2",
"transcript_support_level": null,
"aa_start": 80,
"aa_end": null,
"aa_length": 773,
"cds_start": 240,
"cds_end": null,
"cds_length": 2322,
"cdna_start": 395,
"cdna_end": null,
"cdna_length": 5238,
"mane_select": "ENST00000265641.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPT1A",
"gene_hgnc_id": 2328,
"hgvs_c": "c.240G>A",
"hgvs_p": "p.Ser80Ser",
"transcript": "ENST00000265641.10",
"protein_id": "ENSP00000265641.4",
"transcript_support_level": 1,
"aa_start": 80,
"aa_end": null,
"aa_length": 773,
"cds_start": 240,
"cds_end": null,
"cds_length": 2322,
"cdna_start": 395,
"cdna_end": null,
"cdna_length": 5238,
"mane_select": "NM_001876.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPT1A",
"gene_hgnc_id": 2328,
"hgvs_c": "c.240G>A",
"hgvs_p": "p.Ser80Ser",
"transcript": "ENST00000376618.6",
"protein_id": "ENSP00000365803.2",
"transcript_support_level": 1,
"aa_start": 80,
"aa_end": null,
"aa_length": 756,
"cds_start": 240,
"cds_end": null,
"cds_length": 2271,
"cdna_start": 410,
"cdna_end": null,
"cdna_length": 2635,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPT1A",
"gene_hgnc_id": 2328,
"hgvs_c": "c.240G>A",
"hgvs_p": "p.Ser80Ser",
"transcript": "ENST00000540367.5",
"protein_id": "ENSP00000439084.1",
"transcript_support_level": 1,
"aa_start": 80,
"aa_end": null,
"aa_length": 756,
"cds_start": 240,
"cds_end": null,
"cds_length": 2271,
"cdna_start": 269,
"cdna_end": null,
"cdna_length": 2496,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPT1A",
"gene_hgnc_id": 2328,
"hgvs_c": "c.240G>A",
"hgvs_p": "p.Ser80Ser",
"transcript": "NM_001440358.1",
"protein_id": "NP_001427287.1",
"transcript_support_level": null,
"aa_start": 80,
"aa_end": null,
"aa_length": 773,
"cds_start": 240,
"cds_end": null,
"cds_length": 2322,
"cdna_start": 386,
"cdna_end": null,
"cdna_length": 5229,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPT1A",
"gene_hgnc_id": 2328,
"hgvs_c": "c.240G>A",
"hgvs_p": "p.Ser80Ser",
"transcript": "NM_001440359.1",
"protein_id": "NP_001427288.1",
"transcript_support_level": null,
"aa_start": 80,
"aa_end": null,
"aa_length": 773,
"cds_start": 240,
"cds_end": null,
"cds_length": 2322,
"cdna_start": 1261,
"cdna_end": null,
"cdna_length": 6104,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPT1A",
"gene_hgnc_id": 2328,
"hgvs_c": "c.240G>A",
"hgvs_p": "p.Ser80Ser",
"transcript": "ENST00000539743.5",
"protein_id": "ENSP00000446108.1",
"transcript_support_level": 5,
"aa_start": 80,
"aa_end": null,
"aa_length": 773,
"cds_start": 240,
"cds_end": null,
"cds_length": 2322,
"cdna_start": 269,
"cdna_end": null,
"cdna_length": 2382,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPT1A",
"gene_hgnc_id": 2328,
"hgvs_c": "c.240G>A",
"hgvs_p": "p.Ser80Ser",
"transcript": "NM_001031847.3",
"protein_id": "NP_001027017.1",
"transcript_support_level": null,
"aa_start": 80,
"aa_end": null,
"aa_length": 756,
"cds_start": 240,
"cds_end": null,
"cds_length": 2271,
"cdna_start": 395,
"cdna_end": null,
"cdna_length": 2622,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPT1A",
"gene_hgnc_id": 2328,
"hgvs_c": "c.240G>A",
"hgvs_p": "p.Ser80Ser",
"transcript": "NM_001440360.1",
"protein_id": "NP_001427289.1",
"transcript_support_level": null,
"aa_start": 80,
"aa_end": null,
"aa_length": 756,
"cds_start": 240,
"cds_end": null,
"cds_length": 2271,
"cdna_start": 1261,
"cdna_end": null,
"cdna_length": 3488,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPT1A",
"gene_hgnc_id": 2328,
"hgvs_c": "c.240G>A",
"hgvs_p": "p.Ser80Ser",
"transcript": "NM_001440362.1",
"protein_id": "NP_001427291.1",
"transcript_support_level": null,
"aa_start": 80,
"aa_end": null,
"aa_length": 742,
"cds_start": 240,
"cds_end": null,
"cds_length": 2229,
"cdna_start": 395,
"cdna_end": null,
"cdna_length": 5145,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPT1A",
"gene_hgnc_id": 2328,
"hgvs_c": "c.240G>A",
"hgvs_p": "p.Ser80Ser",
"transcript": "NM_001440363.1",
"protein_id": "NP_001427292.1",
"transcript_support_level": null,
"aa_start": 80,
"aa_end": null,
"aa_length": 737,
"cds_start": 240,
"cds_end": null,
"cds_length": 2214,
"cdna_start": 386,
"cdna_end": null,
"cdna_length": 5121,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPT1A",
"gene_hgnc_id": 2328,
"hgvs_c": "c.240G>A",
"hgvs_p": "p.Ser80Ser",
"transcript": "NM_001440364.1",
"protein_id": "NP_001427293.1",
"transcript_support_level": null,
"aa_start": 80,
"aa_end": null,
"aa_length": 722,
"cds_start": 240,
"cds_end": null,
"cds_length": 2169,
"cdna_start": 395,
"cdna_end": null,
"cdna_length": 5085,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPT1A",
"gene_hgnc_id": 2328,
"hgvs_c": "c.240G>A",
"hgvs_p": "p.Ser80Ser",
"transcript": "NM_001440365.1",
"protein_id": "NP_001427294.1",
"transcript_support_level": null,
"aa_start": 80,
"aa_end": null,
"aa_length": 711,
"cds_start": 240,
"cds_end": null,
"cds_length": 2136,
"cdna_start": 395,
"cdna_end": null,
"cdna_length": 5052,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPT1A",
"gene_hgnc_id": 2328,
"hgvs_c": "c.240G>A",
"hgvs_p": "p.Ser80Ser",
"transcript": "NM_001440367.1",
"protein_id": "NP_001427296.1",
"transcript_support_level": null,
"aa_start": 80,
"aa_end": null,
"aa_length": 326,
"cds_start": 240,
"cds_end": null,
"cds_length": 981,
"cdna_start": 395,
"cdna_end": null,
"cdna_length": 1415,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPT1A",
"gene_hgnc_id": 2328,
"hgvs_c": "c.240G>A",
"hgvs_p": "p.Ser80Ser",
"transcript": "ENST00000565318.5",
"protein_id": "ENSP00000457826.1",
"transcript_support_level": 5,
"aa_start": 80,
"aa_end": null,
"aa_length": 133,
"cds_start": 240,
"cds_end": null,
"cds_length": 404,
"cdna_start": 347,
"cdna_end": null,
"cdna_length": 511,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPT1A",
"gene_hgnc_id": 2328,
"hgvs_c": "c.240G>A",
"hgvs_p": "p.Ser80Ser",
"transcript": "ENST00000569129.5",
"protein_id": "ENSP00000455116.1",
"transcript_support_level": 4,
"aa_start": 80,
"aa_end": null,
"aa_length": 116,
"cds_start": 240,
"cds_end": null,
"cds_length": 353,
"cdna_start": 386,
"cdna_end": null,
"cdna_length": 499,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPT1A",
"gene_hgnc_id": 2328,
"hgvs_c": "c.240G>A",
"hgvs_p": "p.Ser80Ser",
"transcript": "ENST00000561996.1",
"protein_id": "ENSP00000457663.1",
"transcript_support_level": 4,
"aa_start": 80,
"aa_end": null,
"aa_length": 92,
"cds_start": 240,
"cds_end": null,
"cds_length": 280,
"cdna_start": 519,
"cdna_end": null,
"cdna_length": 559,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "CPT1A",
"gene_hgnc_id": 2328,
"dbsnp": "rs61731904",
"frequency_reference_population": 0.0036507836,
"hom_count_reference_population": 203,
"allele_count_reference_population": 5893,
"gnomad_exomes_af": 0.00197963,
"gnomad_genomes_af": 0.0196935,
"gnomad_exomes_ac": 2894,
"gnomad_genomes_ac": 2999,
"gnomad_exomes_homalt": 98,
"gnomad_genomes_homalt": 105,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.6899999976158142,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.69,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -1.234,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -21,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BP7,BA1",
"acmg_by_gene": [
{
"score": -21,
"benign_score": 21,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BP7",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000265641.10",
"gene_symbol": "CPT1A",
"hgnc_id": 2328,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.240G>A",
"hgvs_p": "p.Ser80Ser"
}
],
"clinvar_disease": "Carnitine palmitoyl transferase 1A deficiency,not provided,not specified",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:4",
"phenotype_combined": "not specified|Carnitine palmitoyl transferase 1A deficiency|not provided",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}